MIER1 Gene: Structure, Function, and Clinical Significance
Comprehensive genomic and proteomic overview of MIER1 (MIER1 Transcriptional Regulator)
Gene Information Card
| Symbol | MIER1 |
|---|---|
| Full Name | MIER1 transcriptional regulator |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 57708 ncbi.nlm.nih.gov/gene/57708 |
| Ensembl ID | ENSG00000198160 |
| UniProt ID | Q8N1N0 |
| OMIM ID | 614601 |
| HGNC ID | 29673 |
| Aliases | KIAA1310, MI-ER1, ER1, MGC138290 |
Description
MIER1 (MIER1 transcriptional regulator) encodes a protein that functions as a transcriptional repressor. It contains an ELM2 domain and a SANT domain, which are involved in chromatin remodeling and histone deacetylase (HDAC) recruitment. MIER1 interacts with HDAC1 and HDAC2 to repress transcription and plays roles in cell differentiation, proliferation, and development. The gene is located on chromosome 1p31.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | MIER1 is implicated in estrogen receptor (ER) signaling; altered expression may contribute to tumor progression. | PMID: 21947079; COSMIC mutation data |
| Colorectal cancer | MIER1 mutations and copy number alterations observed in colorectal tumors. | COSMIC; TCGA data |
| Endometrial cancer | MIER1 expression changes associated with endometrial carcinoma. | PMID: 25691885; COSMIC |
| Prostate cancer | MIER1 may modulate androgen receptor activity; expression changes reported. | PMID: 22902548 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Lung | 9.8 | Medium |
| Breast | 7.4 | Low |
| Colon | 11.1 | Medium |
| Prostate | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney; high expression |
| HeLa | 11.5 | Cervical cancer; medium expression |
| MCF7 | 9.8 | Breast cancer; medium expression |
| HCT116 | 12.1 | Colorectal cancer; medium-high expression |
| A549 | 10.3 | Lung cancer; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.02% (COSMIC) | Unknown functional effect; located in SANT domain |
| c.1456C>T (p.Arg486*) | Nonsense | 0.01% (COSMIC) | Predicted loss of function; truncation |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift insertion | 0.01% (COSMIC) | Loss of function; premature stop |
| c.2017G>T (p.Glu673*) | Nonsense | 0.01% (COSMIC) | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg486*, p.Glu264Argfs*12) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MIER1.
Dominant Negative (DN)
No dominant-negative mutations described for MIER1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3214847)
• HDACs deacetylate histones (Reactome: R-HSA-3214815)
• Transcriptional regulation by MIER1 (PMID: 21947079)
Protein Summary
The MIER1 protein (UniProt Q8N1N0) is a 512-amino-acid transcriptional repressor containing an ELM2 domain and a SANT domain. It localizes to the nucleus and interacts with HDAC1 and HDAC2 to mediate histone deacetylation and chromatin compaction. MIER1 is involved in the regulation of cell differentiation and proliferation, and its dysregulation is associated with several cancers, including breast, colorectal, and endometrial cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIER1 Knockout HEK293 Cell Line | EDJ-KQ14263 | Human | 57708 | Details Get a Quote |
| MIER1 Knockout A-549 Cell Line | EDJ-KQ44275 | Human | 57708 | Details Get a Quote |
| MIER1 Knockout HCT 116 Cell Line | EDJ-KQ44276 | Human | 57708 | Details Get a Quote |
| MIER1 Knockout HeLa Cell Line | EDJ-KQ44277 | Human | 57708 | Details Get a Quote |
